Canonical Allele Identifier: CA347304
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 204302
dbSNP Id: rs756985703

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68934517C>A , CM000673.2:g.68934517C>A GRCh38
NC_000011.9:g.68701985C>A , CM000673.1:g.68701985C>A GRCh37
NC_000011.8:g.68458561C>A NCBI36
NG_007976.1:g.35667C>A , LRG_250:g.35667C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1591C>A MANE Select ENSP00000255078.4:p.Pro531Thr
ENST00000674672.1:n.54C>A
ENST00000674955.1:c.*308C>A ENSP00000502463.1:n.*308C>A
ENST00000675118.1:c.1079C>A
ENST00000675205.1:n.237C>A
ENST00000675615.1:c.1591C>A ENSP00000502413.1:p.Pro531Thr
ENST00000675648.1:n.966C>A
ENST00000675964.1:n.54C>A
ENST00000675997.1:n.166C>A
ENST00000676173.1:n.2336C>A
ENST00000676182.1:c.54C>A
ENST00000676228.1:c.*914C>A ENSP00000502375.1:n.*914C>A
ENST00000255078.7:c.1591C>A ENSP00000255078.3:p.Pro531Thr
ENST00000539064.5:n.1350C>A
ENST00000541229.5:n.286C>A
ENST00000543739.5:n.708C>A
ENST00000545475.1:n.187C>A
NM_002180.2:c.1591C>A , LRG_250t1:c.1591C>A NP_002171.2:p.Pro531Thr
XM_005273974.2:c.580C>A XP_005274031.1:p.Pro194Thr
XM_005273975.2:c.463C>A XP_005274032.1:p.Pro155Thr
XM_011544994.1:c.358C>A XP_011543296.1:p.Pro120Thr
XR_949903.1:n.1693C>A
XM_005273975.3:c.463C>A XP_005274032.1:p.Pro155Thr
XM_017017669.2:c.580C>A XP_016873158.1:p.Pro194Thr
XM_017017670.2:c.580C>A XP_016873159.1:p.Pro194Thr
XM_017017671.2:c.1591C>A XP_016873160.1:p.Pro531Thr
XR_949903.3:n.1689C>A
NM_002180.3:c.1591C>A MANE Select NP_002171.2:p.Pro531Thr